Somatic overgrowth associated with overexpression of insulin-like growth factor II.

Abstract:

:Overexpression of the normally imprinted fetal insulin-like growth factor II (IGF2) has been implicated in the pathogenesis of the cancer-predisposing Beckwith-Wiedemann syndrome (BWS). We have detected constitutional relaxation of imprinting of IGF2 in four children with somatic overgrowth who do not show diagnostic features of BWS. Three children showed constitutional abnormalities of H19 methylation. All four children showed nephromegaly and two developed Wilms' tumors. Gene methylation is known to be associated with gene silencing, and three children showed constitutional abnormalities of H19 gene methylation. Disruption of H19 methylation, and concomitant relaxation of IGF2 imprinting, provides another mechanism that can increase IGF2 expression in children with overgrowth. The accumulated data on normal and pathologic IGF2 expression are now sufficient to define an entity, "IGF2 overgrowth disorder," of which BWS may be one extreme manifestation. These findings have broad implications for the characterization of idiopathic overgrowth.

journal_name

Nat Med

journal_title

Nature medicine

authors

Morison IM,Becroft DM,Taniguchi T,Woods CG,Reeve AE

doi

10.1038/nm0396-311

subject

Has Abstract

pub_date

1996-03-01 00:00:00

pages

311-6

issue

3

eissn

1078-8956

issn

1546-170X

journal_volume

2

pub_type

杂志文章
  • Epidermal growth factor regulates hematopoietic regeneration after radiation injury.

    abstract::The mechanisms that regulate hematopoietic stem cell (HSC) regeneration after myelosuppressive injury are not well understood. We identified epidermal growth factor (EGF) to be highly enriched in the bone marrow serum of mice bearing deletion of Bak and Bax in TIE2-expressing cells in Tie2Cre; Bak1(-/-); Bax(flox/-) m...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm.3070

    authors: Doan PL,Himburg HA,Helms K,Russell JL,Fixsen E,Quarmyne M,Harris JR,Deoliviera D,Sullivan JM,Chao NJ,Kirsch DG,Chute JP

    更新日期:2013-03-01 00:00:00

  • The tyrosine kinase p56lck is essential in coxsackievirus B3-mediated heart disease.

    abstract::Infections are thought to be important in the pathogenesis of many heart diseases. Coxsackievirus B3 (CVB3) has been linked to chronic dilated cardiomyopathy, a common cause of progressive heart disease, heart failure and sudden death. We show here that the sarcoma (Src) family kinase Lck (p56lck) is required for effi...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/74689

    authors: Liu P,Aitken K,Kong YY,Opavsky MA,Martino T,Dawood F,Wen WH,Kozieradzki I,Bachmaier K,Straus D,Mak TW,Penninger JM

    更新日期:2000-04-01 00:00:00

  • Targeted therapy guided by single-cell transcriptomic analysis in drug-induced hypersensitivity syndrome: a case report.

    abstract::Drug-induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms (DiHS/DRESS) is a potentially fatal multiorgan inflammatory disease associated with herpesvirus reactivation and subsequent onset of autoimmune diseases1-4. Pathophysiology remains elusive and therapeutic options are limited. ...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/s41591-019-0733-7

    authors: Kim D,Kobayashi T,Voisin B,Jo JH,Sakamoto K,Jin SP,Kelly M,Pasieka HB,Naff JL,Meyerle JH,Ikpeama ID,Fahle GA,Davis FP,Rosenzweig SD,Alejo JC,Pittaluga S,Kong HH,Freeman AF,Nagao K

    更新日期:2020-02-01 00:00:00

  • Large-scale proteomic analysis of Alzheimer's disease brain and cerebrospinal fluid reveals early changes in energy metabolism associated with microglia and astrocyte activation.

    abstract::Our understanding of Alzheimer's disease (AD) pathophysiology remains incomplete. Here we used quantitative mass spectrometry and coexpression network analysis to conduct the largest proteomic study thus far on AD. A protein network module linked to sugar metabolism emerged as one of the modules most significantly ass...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/s41591-020-0815-6

    authors: Johnson ECB,Dammer EB,Duong DM,Ping L,Zhou M,Yin L,Higginbotham LA,Guajardo A,White B,Troncoso JC,Thambisetty M,Montine TJ,Lee EB,Trojanowski JQ,Beach TG,Reiman EM,Haroutunian V,Wang M,Schadt E,Zhang B,Dickson DW

    更新日期:2020-05-01 00:00:00

  • Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome.

    abstract::Hutchinson-Gilford progeria syndrome (HGPS) is a childhood premature aging disease caused by a spontaneous point mutation in lamin A (encoded by LMNA), one of the major architectural elements of the mammalian cell nucleus. The HGPS mutation activates an aberrant cryptic splice site in LMNA pre-mRNA, leading to synthes...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm1204

    authors: Scaffidi P,Misteli T

    更新日期:2005-04-01 00:00:00

  • Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer.

    abstract::The Zero Childhood Cancer Program is a precision medicine program to benefit children with poor-outcome, rare, relapsed or refractory cancer. Using tumor and germline whole genome sequencing (WGS) and RNA sequencing (RNAseq) across 252 tumors from high-risk pediatric patients with cancer, we identified 968 reportable ...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/s41591-020-1072-4

    authors: Wong M,Mayoh C,Lau LMS,Khuong-Quang DA,Pinese M,Kumar A,Barahona P,Wilkie EE,Sullivan P,Bowen-James R,Syed M,Martincorena I,Abascal F,Sherstyuk A,Bolanos NA,Baber J,Priestley P,Dolman MEM,Fleuren EDG,Gauthier ME,M

    更新日期:2020-11-01 00:00:00

  • A NOTCH1-driven MYC enhancer promotes T cell development, transformation and acute lymphoblastic leukemia.

    abstract::Efforts to identify and annotate cancer driver genetic lesions have been focused primarily on the analysis of protein-coding genes; however, most genetic abnormalities found in human cancer are located in intergenic regions. Here we identify a new long range-acting MYC enhancer controlled by NOTCH1 that is targeted by...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm.3665

    authors: Herranz D,Ambesi-Impiombato A,Palomero T,Schnell SA,Belver L,Wendorff AA,Xu L,Castillo-Martin M,Llobet-Navás D,Cordon-Cardo C,Clappier E,Soulier J,Ferrando AA

    更新日期:2014-10-01 00:00:00

  • Up against the wall.

    abstract::The notoriously drug-resistant bug MRSA has made headlines for years, but a whole other class of bacteria may prove even more troublesome. These microbes, Gram-negative bacteria, are increasingly a threat--and yet not a single late-stage drug in development specifically targets them. Christian Torres follows one man's...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm0610-628

    authors: Torres C

    更新日期:2010-06-01 00:00:00

  • Passive immunization with a human monoclonal antibody protects hu-PBL-SCID mice against challenge by primary isolates of HIV-1.

    abstract::How well antibodies can protect against disease due to HIV-1 infection remains a pivotal but unresolved issue with important implications for vaccine design and the use of prophylactic antibody to prevent infection after accidental exposure to the virus and to interrupt transmission of virus from mother to child. Stro...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm1297-1389

    authors: Gauduin MC,Parren PW,Weir R,Barbas CF,Burton DR,Koup RA

    更新日期:1997-12-01 00:00:00

  • Mice deficient in tumor necrosis factor-alpha are resistant to skin carcinogenesis.

    abstract::Given the associations between chronic inflammation and epithelial cancer, we studied susceptibility to skin carcinogenesis in mice deficient for the pro-inflammatory cytokine TNF-alpha (refs. 5,6). TNF-alpha(-/-) mice were resistant to development of benign and malignant skin tumors, whether induced by initiation wit...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/10552

    authors: Moore RJ,Owens DM,Stamp G,Arnott C,Burke F,East N,Holdsworth H,Turner L,Rollins B,Pasparakis M,Kollias G,Balkwill F

    更新日期:1999-07-01 00:00:00

  • Glutaminyl cyclase inhibition attenuates pyroglutamate Abeta and Alzheimer's disease-like pathology.

    abstract::Because of their abundance, resistance to proteolysis, rapid aggregation and neurotoxicity, N-terminally truncated and, in particular, pyroglutamate (pE)-modified Abeta peptides have been suggested as being important in the initiation of pathological cascades resulting in the development of Alzheimer's disease. We fou...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm.1872

    authors: Schilling S,Zeitschel U,Hoffmann T,Heiser U,Francke M,Kehlen A,Holzer M,Hutter-Paier B,Prokesch M,Windisch M,Jagla W,Schlenzig D,Lindner C,Rudolph T,Reuter G,Cynis H,Montag D,Demuth HU,Rossner S

    更新日期:2008-10-01 00:00:00

  • Rescue of hearing and vestibular function by antisense oligonucleotides in a mouse model of human deafness.

    abstract::Hearing impairment is the most common sensory disorder, with congenital hearing impairment present in approximately 1 in 1,000 newborns. Hereditary deafness is often mediated by the improper development or degeneration of cochlear hair cells. Until now, it was not known whether such congenital failures could be mitiga...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm.3106

    authors: Lentz JJ,Jodelka FM,Hinrich AJ,McCaffrey KE,Farris HE,Spalitta MJ,Bazan NG,Duelli DM,Rigo F,Hastings ML

    更新日期:2013-03-01 00:00:00

  • Characterization of pancreatic NMDA receptors as possible drug targets for diabetes treatment.

    abstract::In the nervous system, NMDA receptors (NMDARs) participate in neurotransmission and modulate the viability of neurons. In contrast, little is known about the role of NMDARs in pancreatic islets and the insulin-secreting beta cells whose functional impairment contributes to diabetes mellitus. Here we found that inhibit...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm.3822

    authors: Marquard J,Otter S,Welters A,Stirban A,Fischer A,Eglinger J,Herebian D,Kletke O,Klemen MS,Stožer A,Wnendt S,Piemonti L,Köhler M,Ferrer J,Thorens B,Schliess F,Rupnik MS,Heise T,Berggren PO,Klöcker N,Meissner T,Ma

    更新日期:2015-04-01 00:00:00

  • Low and variable tumor reactivity of the intratumoral TCR repertoire in human cancers.

    abstract::Infiltration of human cancers by T cells is generally interpreted as a sign of immune recognition, and there is a growing effort to reactivate dysfunctional T cells at such tumor sites1. However, these efforts only have value if the intratumoral T cell receptor (TCR) repertoire of such cells is intrinsically tumor rea...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/s41591-018-0266-5

    authors: Scheper W,Kelderman S,Fanchi LF,Linnemann C,Bendle G,de Rooij MAJ,Hirt C,Mezzadra R,Slagter M,Dijkstra K,Kluin RJC,Snaebjornsson P,Milne K,Nelson BH,Zijlmans H,Kenter G,Voest EE,Haanen JBAG,Schumacher TN

    更新日期:2019-01-01 00:00:00

  • Restoration of immunity in lymphopenic individuals with cancer by vaccination and adoptive T-cell transfer.

    abstract::Immunodeficiency is a barrier to successful vaccination in individuals with cancer and chronic infection. We performed a randomized phase 1/2 study in lymphopenic individuals after high-dose chemotherapy and autologous hematopoietic stem cell transplantation for myeloma. Combination immunotherapy consisting of a singl...

    journal_title:Nature medicine

    pub_type: 杂志文章,随机对照试验

    doi:10.1038/nm1310

    authors: Rapoport AP,Stadtmauer EA,Aqui N,Badros A,Cotte J,Chrisley L,Veloso E,Zheng Z,Westphal S,Mair R,Chi N,Ratterree B,Pochran MF,Natt S,Hinkle J,Sickles C,Sohal A,Ruehle K,Lynch C,Zhang L,Porter DL,Luger S,Guo C,

    更新日期:2005-11-01 00:00:00

  • Treatment with interferon-α2b and ribavirin improves outcome in MERS-CoV-infected rhesus macaques.

    abstract::The emergence of Middle East respiratory syndrome coronavirus (MERS-CoV) is of global concern: the virus has caused severe respiratory illness, with 111 confirmed cases and 52 deaths at the time of this article's publication. Therapeutic interventions have not been evaluated in vivo; thus, patient management relies ex...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm.3362

    authors: Falzarano D,de Wit E,Rasmussen AL,Feldmann F,Okumura A,Scott DP,Brining D,Bushmaker T,Martellaro C,Baseler L,Benecke AG,Katze MG,Munster VJ,Feldmann H

    更新日期:2013-10-01 00:00:00

  • Impaired flow-dependent control of vascular tone and remodeling in P2X4-deficient mice.

    abstract::The structure and function of blood vessels adapt to environmental changes such as physical development and exercise. This phenomenon is based on the ability of the endothelial cells to sense and respond to blood flow; however, the underlying mechanisms remain unclear. Here we show that the ATP-gated P2X4 ion channel,...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm1338

    authors: Yamamoto K,Sokabe T,Matsumoto T,Yoshimura K,Shibata M,Ohura N,Fukuda T,Sato T,Sekine K,Kato S,Isshiki M,Fujita T,Kobayashi M,Kawamura K,Masuda H,Kamiya A,Ando J

    更新日期:2006-01-01 00:00:00

  • The TAM receptor Mertk protects against neuroinvasive viral infection by maintaining blood-brain barrier integrity.

    abstract::The TAM receptors Tyro3, Axl and Mertk are receptor tyrosine kinases that dampen host innate immune responses following engagement with their ligands Gas6 and Protein S, which recognize phosphatidylserine on apoptotic cells. In a form of apoptotic mimicry, many enveloped viruses display phosphatidylserine on the outer...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm.3974

    authors: Miner JJ,Daniels BP,Shrestha B,Proenca-Modena JL,Lew ED,Lazear HM,Gorman MJ,Lemke G,Klein RS,Diamond MS

    更新日期:2015-12-01 00:00:00

  • AKT2 is essential to maintain podocyte viability and function during chronic kidney disease.

    abstract::In chronic kidney disease (CKD), loss of functional nephrons results in metabolic and mechanical stress in the remaining ones, resulting in further nephron loss. Here we show that Akt2 activation has an essential role in podocyte protection after nephron reduction. Glomerulosclerosis and albuminuria were substantially...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm.3313

    authors: Canaud G,Bienaimé F,Viau A,Treins C,Baron W,Nguyen C,Burtin M,Berissi S,Giannakakis K,Muda AO,Zschiedrich S,Huber TB,Friedlander G,Legendre C,Pontoglio M,Pende M,Terzi F

    更新日期:2013-10-01 00:00:00

  • Publisher Correction: Responding to the hidden pandemic for healthcare workers: stress.

    abstract::A Correction to this paper has been published: https://doi.org/10.1038/s41591-020-01176-7. ...

    journal_title:Nature medicine

    pub_type: 已发布勘误

    doi:10.1038/s41591-020-01176-7

    authors: Krystal JH

    更新日期:2020-12-01 00:00:00

  • A cannabinoid mechanism in relapse to cocaine seeking.

    abstract::Treatment of cocaine addiction is hampered by high rates of relapse even after prolonged drug abstinence. This relapse to compulsive cocaine use can be triggered by re-exposure to cocaine, by re-exposure to stimuli previously associated with cocaine or by exposure to stress. In laboratory rats, similar events reinstat...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm1001-1151

    authors: De Vries TJ,Shaham Y,Homberg JR,Crombag H,Schuurman K,Dieben J,Vanderschuren LJ,Schoffelmeer AN

    更新日期:2001-10-01 00:00:00

  • Peripherally administered antibodies against amyloid beta-peptide enter the central nervous system and reduce pathology in a mouse model of Alzheimer disease.

    abstract::One hallmark of Alzheimer disease is the accumulation of amyloid beta-peptide in the brain and its deposition as plaques. Mice transgenic for an amyloid beta precursor protein (APP) mini-gene driven by a platelet-derived (PD) growth factor promoter (PDAPP mice), which overexpress one of the disease-linked mutant forms...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/78682

    authors: Bard F,Cannon C,Barbour R,Burke RL,Games D,Grajeda H,Guido T,Hu K,Huang J,Johnson-Wood K,Khan K,Kholodenko D,Lee M,Lieberburg I,Motter R,Nguyen M,Soriano F,Vasquez N,Weiss K,Welch B,Seubert P,Schenk D,Yednock

    更新日期:2000-08-01 00:00:00

  • High plasma HDL concentrations associated with enhanced atherosclerosis in transgenic mice overexpressing lecithin-cholesteryl acyltransferase.

    abstract::A subset of patients with high plasma HDL concentrations have enhanced rather than reduced atherosclerosis. We have developed a new transgenic mouse model overexpressing human lecithin-cholesteryl acyltransferase (LCAT) that has elevated HDL and increased diet-induced atherosclerosis. LCAT transgenic mouse HDLs are ab...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm0797-744

    authors: Bérard AM,Föger B,Remaley A,Shamburek R,Vaisman BL,Talley G,Paigen B,Hoyt RF Jr,Marcovina S,Brewer HB Jr,Santamarina-Fojo S

    更新日期:1997-07-01 00:00:00

  • TH17 cells contribute to uveitis and scleritis and are expanded by IL-2 and inhibited by IL-27/STAT1.

    abstract::T-helper type 17 cells (T(H)17) are implicated in rodent models of immune-mediated diseases. Here we report their involvement in human uveitis and scleritis, and validate our findings in experimental autoimmune uveoretinitis (EAU), a model of uveitis. T(H)17 cells were present in human peripheral blood mononuclear cel...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm1585

    authors: Amadi-Obi A,Yu CR,Liu X,Mahdi RM,Clarke GL,Nussenblatt RB,Gery I,Lee YS,Egwuagu CE

    更新日期:2007-06-01 00:00:00

  • The association between sterilizing activity and drug distribution into tuberculosis lesions.

    abstract::Finding new treatment-shortening antibiotics to improve cure rates and curb the alarming emergence of drug resistance is the major objective of tuberculosis (TB) drug development. Using a matrix-assisted laser desorption/ionization (MALDI) mass spectrometry imaging suite in a biosafety containment facility, we show th...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm.3937

    authors: Prideaux B,Via LE,Zimmerman MD,Eum S,Sarathy J,O'Brien P,Chen C,Kaya F,Weiner DM,Chen PY,Song T,Lee M,Shim TS,Cho JS,Kim W,Cho SN,Olivier KN,Barry CE 3rd,Dartois V

    更新日期:2015-10-01 00:00:00

  • Human and porcine early kidney precursors as a new source for transplantation.

    abstract::Kidney transplantation has been one of the major medical advances of the past 30 years. However, tissue availability remains a major obstacle. This can potentially be overcome by the use of undifferentiated or partially developed kidney precursor cells derived from early embryos and fetal tissue. Here, transplantation...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm812

    authors: Dekel B,Burakova T,Arditti FD,Reich-Zeliger S,Milstein O,Aviel-Ronen S,Rechavi G,Friedman N,Kaminski N,Passwell JH,Reisner Y

    更新日期:2003-01-01 00:00:00

  • Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1.

    abstract::Hereditary hemochromatosis and transfusional iron overload are frequent clinical conditions associated with progressive iron accumulation in parenchymal tissues, leading to eventual organ failure. We have discovered a new mechanism to reverse iron overload-pharmacological modulation of the divalent metal transporter-1...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm1542

    authors: Ludwiczek S,Theurl I,Muckenthaler MU,Jakab M,Mair SM,Theurl M,Kiss J,Paulmichl M,Hentze MW,Ritter M,Weiss G

    更新日期:2007-04-01 00:00:00

  • Variable major lipoprotein is a principal TNF-inducing factor of louse-borne relapsing fever.

    abstract::Massive release of tumor necrosis factor is responsible for the potentially fatal larisch-Herxheimer reaction that follows antibiotic treatment of relapsing fever due to Borrelia recurrentis. We have undertaken the quantitative purification of the components of B. recurrentis that stimulate human monocytes to produce ...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/4007

    authors: Vidal V,Scragg IG,Cutler SJ,Rockett KA,Fekade D,Warrell DA,Wright DJ,Kwiatkowski D

    更新日期:1998-12-01 00:00:00

  • Deacetylase inhibition promotes the generation and function of regulatory T cells.

    abstract::Histone/protein deacetylases (HDACs) regulate chromatin remodeling and gene expression as well as the functions of more than 50 transcription factors and nonhistone proteins. We found that administration of an HDAC inhibitor (HDACi) in vivo increased Foxp3 gene expression, as well as the production and suppressive fun...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm1652

    authors: Tao R,de Zoeten EF,Ozkaynak E,Chen C,Wang L,Porrett PM,Li B,Turka LA,Olson EN,Greene MI,Wells AD,Hancock WW

    更新日期:2007-11-01 00:00:00

  • A chimeric human-cat fusion protein blocks cat-induced allergy.

    abstract::Animal allergens are an important cause of asthma and allergic rhinitis. We designed and tested a chimeric human-cat fusion protein composed of a truncated human IgG Fcgamma1 and the major cat allergen Fel d1, as a proof of concept for a new approach to allergy immunotherapy. This Fcgamma-Fel d1 protein induced dose-d...

    journal_title:Nature medicine

    pub_type: 杂志文章

    doi:10.1038/nm1219

    authors: Zhu D,Kepley CL,Zhang K,Terada T,Yamada T,Saxon A

    更新日期:2005-04-01 00:00:00